The syndrome is a rare genetic disorder that usually affects boys and men, and a small number of girls and women. Symptoms include:
- heart muscle weakness
- low white blood cell count
- fatigue and muscle weakness
- growth and feeding issues in children
The international 4TAZPower study is investigating the use of medication FORZINITYTM (elamipretide) to increase muscle strength for boys and men aged five and older with Barth syndrome.
FORZINITYTM has already been tested in previous research supporting its accelerated approval by the US Food and Drug Administration (FDA) to improve muscle strength for individuals weighing at least 30 kg with Barth syndrome. This new phase 4 study, recruiting around 50 patients worldwide, is to confirm the drug’s effectiveness, safety and effect on the body.
The study is led by a US company, Mighty Therapeutics Holdings Inc. and its subsidiary Stealth BioTherapeutics Inc., which develop and manufacture FORZINITYTM.
Dr Germaine Pierre, Bristol NHS Foundation Trust Consultant Paediatrician in Metabolic Medicine, is both the Trust’s Principal Investigator and UK Chief Investigator. She said:
"We are delighted to have recruited and dosed the first participant globally for the 4TAZPower study. Barth syndrome is an ultra-rare condition with a significant impact on patients and their families, so it is incredibly rewarding to help bring new research opportunities to this community.
“This achievement reflects the dedication of our clinical research team, our close collaboration with partners across the study, and, most importantly, the willingness of patients and families to take part in research. We hope this study will generate valuable evidence to help improve the lives of people living with Barth syndrome around the world."
The Mighty study team monitoring the study in the UK noted:
“The speed and precision with which Bristol NHS Foundation Trust has screened and dosed the first participant demonstrates their capability to execute at the highest level. This success sets a powerful precedent for patient recruitment and study conduct across all participating sites globally.”
The Cardiology and Medical Research teams at the Bristol Royal Infirmary added:
"We are delighted to be the first site globally to open this study and offer our UK-based patients the opportunity to participate at the earliest possible stage. This significant milestone would not have been achieved without bringing together expertise from multiple research delivery teams and specialties across the Trust, ensuring the smooth set-up and safe delivery of such a complex study.
“This achievement demonstrates the value of cross-specialty collaboration in advancing research and improving patient access to innovative treatments. We look forward to future collaborations that will continue to expand research opportunities and improve care for our patients.”
Reenie McCarthy, Chief Executive Officer of Mighty Therapeutics, said:
"Barth syndrome is a devastating progressive disease that knows no borders. We are committed to supporting and potentially expanding access to elamipretide for individuals living with Barth syndrome worldwide. We are grateful to Barth Syndrome UK and the Bristol team for leading the charge on this global initiative.”
Michaela Damin, Chief Executive of Barth Syndrome UK, said:
"Patients and families around the world affected by Barth syndrome need more research and innovation for this devastating condition, and we are grateful for the new advances that the 4TAZPower study may deliver.
"The global Barth community is enthusiastic about participating in the study on behalf of patients today and for generations to come."